Canonical Allele Identifier: CA267601
Gene: GNPTAB HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.101764563A>C
GRCh37 chr12:g.102158341A>C
Revel Score:
ENST00000299314 (MANE Select) 0.129
gnomAD v2:
12:102158341 A / C
gnomAD v3:
12:101764563 A / C
gnomAD v4:
chr12-101764563-A-C
Joint Max Group AF 0.00002154 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002117 (NFE)
ClinVar RCV:
RCV000087104
RCV003226196
ClinVar Variation:
100738
dbSNP:
144060383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764563A>C , CM000674.2:g.101764563A>C GRCh38
NC_000012.11:g.102158341A>C , CM000674.1:g.102158341A>C GRCh37
NC_000012.10:g.100682472A>C NCBI36
NG_021243.1:g.71305T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2354T>G MANE Select ENSP00000299314.7:p.Leu785Trp
ENST00000299314.11:c.2354T>G ENSP00000299314.7:p.Leu785Trp
NM_024312.4:c.2354T>G NP_077288.2:p.Leu785Trp
XM_006719593.2:c.2354T>G XP_006719656.1:p.Leu785Trp
XM_011538731.1:c.2273T>G XP_011537033.1:p.Leu758Trp
XM_006719593.3:c.2354T>G XP_006719656.1:p.Leu785Trp
XM_011538731.2:c.2273T>G XP_011537033.1:p.Leu758Trp
XM_017019961.1:c.2138T>G XP_016875450.1:p.Leu713Trp
XM_017019962.2:c.1127T>G XP_016875451.1:p.Leu376Trp
NM_024312.5:c.2354T>G MANE Select NP_077288.2:p.Leu785Trp
Search 100 bp 5'
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